Incidental Mutation 'R4118:Cars1'
| ID |
315167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cars1
|
| Ensembl Gene |
ENSMUSG00000010755 |
| Gene Name |
cysteinyl-tRNA synthetase 1 |
| Synonyms |
Cars, CA3 |
| MMRRC Submission |
041631-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4118 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
143110967-143153827 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 143113384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010899]
[ENSMUST00000105909]
|
| AlphaFold |
Q9ER72 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010899
|
| SMART Domains |
Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1e
|
124 |
537 |
2.7e-128 |
PFAM |
|
Blast:DALR_2
|
584 |
644 |
2e-13 |
BLAST |
|
coiled coil region
|
728 |
768 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105909
|
| SMART Domains |
Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1e
|
41 |
454 |
2e-129 |
PFAM |
|
Pfam:tRNA-synt_1g
|
387 |
465 |
1.2e-6 |
PFAM |
|
Blast:DALR_2
|
501 |
561 |
1e-13 |
BLAST |
|
coiled coil region
|
645 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208575
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
92% (55/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
All alleles(37) : Targeted, other(2) Gene trapped(35)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
| 4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
| Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,180 (GRCm39) |
S646T |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
| Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
| Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
| Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
| Rpgrip1l |
G |
A |
8: 91,979,535 (GRCm39) |
T969I |
probably benign |
Het |
| Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,137,893 (GRCm39) |
|
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,673,921 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
| Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,588,331 (GRCm39) |
|
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,844,016 (GRCm39) |
R1018H |
possibly damaging |
Het |
|
| Other mutations in Cars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Cars1
|
APN |
7 |
143,123,586 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02192:Cars1
|
APN |
7 |
143,125,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Cars1
|
APN |
7 |
143,111,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02807:Cars1
|
APN |
7 |
143,123,209 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02860:Cars1
|
APN |
7 |
143,140,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Cars1
|
APN |
7 |
143,112,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vroom
|
UTSW |
7 |
143,124,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Zoom
|
UTSW |
7 |
143,146,362 (GRCm39) |
nonsense |
probably null |
|
|
BB001:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
BB011:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
F5493:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Cars1
|
UTSW |
7 |
143,142,219 (GRCm39) |
splice site |
probably benign |
|
|
R0452:Cars1
|
UTSW |
7 |
143,146,362 (GRCm39) |
nonsense |
probably null |
|
|
R0717:Cars1
|
UTSW |
7 |
143,138,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0930:Cars1
|
UTSW |
7 |
143,124,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Cars1
|
UTSW |
7 |
143,123,844 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1184:Cars1
|
UTSW |
7 |
143,140,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Cars1
|
UTSW |
7 |
143,122,726 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1755:Cars1
|
UTSW |
7 |
143,123,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Cars1
|
UTSW |
7 |
143,130,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2084:Cars1
|
UTSW |
7 |
143,140,919 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2132:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Cars1
|
UTSW |
7 |
143,146,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Cars1
|
UTSW |
7 |
143,146,244 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4012:Cars1
|
UTSW |
7 |
143,113,411 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4057:Cars1
|
UTSW |
7 |
143,124,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Cars1
|
UTSW |
7 |
143,123,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Cars1
|
UTSW |
7 |
143,118,786 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4663:Cars1
|
UTSW |
7 |
143,129,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cars1
|
UTSW |
7 |
143,125,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4820:Cars1
|
UTSW |
7 |
143,124,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Cars1
|
UTSW |
7 |
143,123,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Cars1
|
UTSW |
7 |
143,123,587 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5512:Cars1
|
UTSW |
7 |
143,123,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6505:Cars1
|
UTSW |
7 |
143,118,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7125:Cars1
|
UTSW |
7 |
143,138,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7641:Cars1
|
UTSW |
7 |
143,140,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7674:Cars1
|
UTSW |
7 |
143,140,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7812:Cars1
|
UTSW |
7 |
143,123,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Cars1
|
UTSW |
7 |
143,123,608 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8260:Cars1
|
UTSW |
7 |
143,139,446 (GRCm39) |
missense |
probably benign |
|
|
R8447:Cars1
|
UTSW |
7 |
143,123,766 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8905:Cars1
|
UTSW |
7 |
143,140,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Cars1
|
UTSW |
7 |
143,129,654 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9240:Cars1
|
UTSW |
7 |
143,138,533 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9441:Cars1
|
UTSW |
7 |
143,123,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Cars1
|
UTSW |
7 |
143,113,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9603:Cars1
|
UTSW |
7 |
143,112,929 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0021:Cars1
|
UTSW |
7 |
143,130,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCAGTAATCCTCAGGTG -3'
(R):5'- ATGCTGATAGTGACATTCAGGGC -3'
Sequencing Primer
(F):5'- TAATCCTCAGGTGGCAGGAC -3'
(R):5'- ATAGTGACATTCAGGGCCATGGTC -3'
|
| Genotyping |
NOTE: These primers have not been validated. Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transition.
PCR Primers
R41180024_PCR_F: 5’- GCTGCAGTAATCCTCAGGTG-3’
R11880022_PCR_R: 5’- ATGCTGATAGTGACATTCAGGGC-3’ Sequencing Primers
R11880022_SEQ_F: 5’- TAATCCTCAGGTGGCAGGAC-3’
R11880022_SEQ_R: 5’- ATAGTGACATTCAGGGCCATGGTC-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 400 nucleotides is amplified (NCBI RefSeq: NC_000073, chromosome 7):
40273 atgctgat agtgacattc agggccatgg tcaagcacca tggaattggt
40321 agggcctgac agaacagcag ggtggctcaa gaacacatct caggtgtgtg ctgcttccct
40381 aggctgaaga agagaagagg aggaagaaag aggaggcggc cagaaagaaa caggagcaag
40441 aagtaactat tttacttgtt tatttagggt gcagggtctc ctgggcaaaa atcccacttt
40501 gagccctgcc gcacaggtct ctgtgtcttc tttgggctta gaacaagcac cctttggagc
40561 ggagctggcc tctgcctcca tccctcagat ggtgtcctgg catcagcaaa ggacagattg
40621 cccttaatgg gcccccagct ccactgtcct gccacctgag gattactgca gcc Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>G; sense strand, T>C).
|
| Posted On |
2015-05-14 |
Incidental Mutation